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AVSD
MCID: ATR001
MIFTS: 55

Atrioventricular Septal Defect (AVSD)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Atrioventricular Septal Defect

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MalaCards integrated aliases for Atrioventricular Septal Defect:

Name: Atrioventricular Septal Defect 57 12 75 53 59 37 29 55 6 15 33
Atrioventricular Canal Defect 57 12 59 6
Avsd 57 12 59
Atrioventricular Septal Defect, Susceptibility to, 1 57 13
Endocardial Cushion Defect 57 12
Avcd 57 12
Ecd 57 12
Atrioventricular Canal Defect; Avcd 57
Atrioventricular Septal Defect 1 57
Endocardial Cushion Defect; Ecd 57
Septal Defect, Atrioventricular 40
Endocardial Cushion Defects 44
Avc Defect 57

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Cardiovascular diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050651
KEGG 37 H00547
ICD9CM 35 745.6 745.60
MeSH 44 D004694
SNOMED-CT 68 15459006
ICD10 33 Q21.2
ICD10 via Orphanet 34 Q21.2
UMLS via Orphanet 73 C1389016 C1389018
Orphanet 59 ORPHA98722
MedGen 42 C1389016
UMLS 72 C0014116
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Summaries for Atrioventricular Septal Defect

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OMIM : 57 The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). (606215)

MalaCards based summary : Atrioventricular Septal Defect, also known as atrioventricular canal defect, is related to partial atrioventricular canal and ventricular septal defect 1. An important gene associated with Atrioventricular Septal Defect is SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Transcriptional Regulatory Network in Embryonic Stem Cell. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are cellular and cardiovascular system

Disease Ontology : 12 A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.

KEGG : 37
Atrioventricular septal defect, also known as atrioventricular canal defect or endocardial cushion defect, is a congenital heart malformation involving the interatrial septum, interventricular septum, and atrioventricular valves. The defect is often associated with Down syndrome (trisomy 21).

Wikipedia : 75 Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), also known as "common... more...

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Related Diseases for Atrioventricular Septal Defect

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Diseases in the Atrioventricular Septal Defect family:

Atrioventricular Septal Defect 3 Atrioventricular Septal Defect 2
Atrioventricular Septal Defect 4 Atrioventricular Septal Defect 5

Diseases related to Atrioventricular Septal Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 337)
# Related Disease Score Top Affiliating Genes
1 partial atrioventricular canal 33.8 GATA6 GATA4 CRELD1
2 ventricular septal defect 1 33.1 GATA4 AVSD1
3 complete atrioventricular canal-left heart obstruction syndrome 31.8 GATA4 CRELD1
4 complete atrioventricular canal-tetralogy of fallot syndrome 31.8 GATA4 CRELD1
5 complete atrioventricular canal-ventricle hypoplasia syndrome 31.6 GATA6 GATA4 CRELD1
6 heart septal defect 31.6 TBX5 NKX2-5 GDF1 GATA6 GATA4 CRELD1
7 atrioventricular block 31.2 TBX5 NKX2-5 GATA4
8 transposition of the great arteries 31.1 NKX2-5 GDF1
9 double outlet right ventricle 31.0 NKX2-5 GDF1 GATA6 GATA4 CRELD1
10 tricuspid atresia 30.8 GDF1 CRELD1
11 polydactyly, postaxial, type a1 30.7 EVC2 EVC
12 pulmonary valve stenosis 30.7 GATA4 CRELD1
13 atrial heart septal defect 30.7 TBX5 NKX2-5 GDF1 GATA6 GATA4 CRELD1
14 patent ductus arteriosus 1 30.6 NKX2-5 GDF1 GATA6 GATA4 CRELD1
15 ebstein anomaly 30.5 NKX2-5 GDF1 GATA4
16 eisenmenger syndrome 30.4 NKX2-5 GATA4 EDN1
17 hypoplastic left heart syndrome 30.2 NKX2-5 GJA1 FOXP1
18 ventricular septal defect 30.2 TBX5 NKX2-5 NFATC1 GDF1 GATA6 GATA4
19 sinoatrial node disease 29.9 GJC1 GJA1
20 tetralogy of fallot 29.9 TBX5 NKX2-5 GJA1 GDF1 GATA6 GATA4
21 dilated cardiomyopathy 29.2 TBX5 NKX2-5 GJA1 GATA4 EDN1
22 heart disease 27.4 TBX5 NKX2-5 NFATC1 GJA1 GDF1 GATA6
23 atrioventricular septal defect 4 12.9
24 atrioventricular septal defect 5 12.9
25 atrioventricular septal defect 2 12.9
26 atrioventricular septal defect 3 12.9
27 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 12.5
28 atrioventricular septal defect with blepharophimosis and anal and radial defects 12.5
29 erdheim-chester disease 12.3
30 complete atrioventricular canal 12.1
31 right atrial isomerism 11.9
32 ritscher-schinzel syndrome 1 11.8
33 ellis-van creveld syndrome 11.7
34 8p23.1 duplication syndrome 11.7
35 atrial septal defect 7 with or without atrioventricular conduction defects 11.6
36 hemifacial atrophy, progressive 11.6
37 atrial heart septal defect 7 11.5
38 split-hand/foot malformation 1 11.4
39 atrial septal defect 2 11.4
40 chromosome 3pter-p25 deletion syndrome 11.4
41 chromosome 8p23.1 deletion 11.4
42 heterotaxy, visceral, 4, autosomal 11.4
43 heterotaxy, visceral, 6, autosomal 11.4
44 chaotic atrial tachycardia 11.4
45 down syndrome 11.0
46 chromosomal triplication 10.9
47 mitral valve insufficiency 10.8
48 pulmonary hypertension 10.7
49 subvalvular aortic stenosis 10.7
50 single ventricular heart 10.6

Graphical network of the top 20 diseases related to Atrioventricular Septal Defect:



Diseases related to Atrioventricular Septal Defect
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Symptoms & Phenotypes for Atrioventricular Septal Defect

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Clinical features from OMIM:

606215

MGI Mouse Phenotypes related to Atrioventricular Septal Defect:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.2 CRELD1 EVC EVC2 GATA4 GATA6 GDF1
2 cardiovascular system MP:0005385 10.18 CRELD1 EDN1 GATA4 GATA6 GDF1 GJA1
3 growth/size/body region MP:0005378 10.18 EDN1 EVC EVC2 GATA4 GATA6 GDF1
4 embryo MP:0005380 10.1 CRELD1 EDN1 GATA4 GATA6 GDF1 GJA1
5 mortality/aging MP:0010768 10.07 CRELD1 EDN1 EVC EVC2 GATA4 GATA6
6 craniofacial MP:0005382 10.03 CRELD1 EDN1 EVC EVC2 GDF1 GJA1
7 limbs/digits/tail MP:0005371 9.87 EVC EVC2 GATA4 GATA6 GJA1 NFATC1
8 muscle MP:0005369 9.76 EDN1 GATA4 GATA6 GJA1 GJC1 NFATC1
9 normal MP:0002873 9.56 EDN1 EVC2 GATA4 GATA6 GDF1 GJA1
10 skeleton MP:0005390 9.28 EDN1 EVC EVC2 GATA4 GDF1 GJA1
Sources

Drugs & Therapeutics for Atrioventricular Septal Defect

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Drugs for Atrioventricular Septal Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 3 1401-55-4
2
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
3
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
4
Enalaprilat Approved Phase 3 76420-72-9 6917719
5
protease inhibitors Phase 3
6 HIV Protease Inhibitors Phase 3
7 Angiotensin-Converting Enzyme Inhibitors Phase 3
8 Antihypertensive Agents Phase 3
9
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 68602 5311068
10
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
11
Sodium citrate Approved, Investigational Phase 2 68-04-2
12
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
13
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
14 Analgesics, Non-Narcotic Phase 2
15 Analgesics Phase 2
16 Peripheral Nervous System Agents Phase 2
17 Anesthetics, Intravenous Phase 2
18 Neurotransmitter Agents Phase 2
19 Adrenergic alpha-2 Receptor Agonists Phase 2
20 Citrate Phase 2
21 Narcotics Phase 2
22 Adrenergic Agonists Phase 2
23 Adrenergic alpha-Agonists Phase 2
24 Chelating Agents Phase 2
25 Central Nervous System Depressants Phase 2
26 Adrenergic Agents Phase 2
27 Adjuvants, Anesthesia Phase 2
28 Hypnotics and Sedatives Phase 2
29 Anesthetics Phase 2
30 Anesthetics, General Phase 2
31 Analgesics, Opioid Phase 2
32 Anticoagulants Phase 2
33 Calcium, Dietary Phase 2
34 Dextrans Phase 2
35 Plasma Substitutes Phase 2
36 Blood Substitutes Phase 2
37 Pharmaceutical Solutions Phase 2
38
Nitric Oxide Approved Phase 1 10102-43-9 145068
39 Anti-Infective Agents Phase 1
40 Antiviral Agents Phase 1
41 carnitine Phase 1
42
Acetaminophen Approved 103-90-2 1983
43 Antipyretics

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 A Phase III Single-Blind, Randomized, Placebo Controlled, Clinical Trial to Determine the Safety and Efficacy of Intravenous L-Citrulline Versus Placebo in Children Undergoing Cardiopulmonary Bypass Completed NCT00335244 Phase 3 L-citrulline;Placebo of intravenous L-citrulline
2 A Phase III Double-Blind, Randomized, Placebo Controlled, Multi-Center Clinical Study to Evaluate the Efficacy and Safety of Intravenous L-citrulline for the Prevention of Clinical Sequelae of Acute Lung Injury Induced by Cardiopulmonary Bypass in Pediatric Subjects Undergoing Surgery for Congenital Heart Defects Active, not recruiting NCT02891837 Phase 3 L-citrulline
3 Trial of ACE Inhibition in Children With Mitral Regurgitation After Repair of AVSD Terminated NCT00113698 Phase 3 Enalapril
4 Phase IB Double Blind, Randomized, Placebo Controlled Clinical Trial to Determine the Pharmacokinetics and Safety of a Revised Protocol of Intravenous L-Citrulline (Citrupress®) Versus Placebo in Children Undergoing Cardiopulmonary Bypass Completed NCT01120964 Phase 1, Phase 2 Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
5 Stress Response in Children Undergoing Cardiac Surgery: a Prospective Randomized Comparison Between Low Dose Fentanyl (LDF), Low Dose Fentanyl Plus Dexmedetomidine (LDF + Dex) and High Dose Fentanyl (HDF). Completed NCT00848393 Phase 2 Fentanyl (High Dose);Fentanyl (Low Dose);Fentanyl (Low Dose) + Dexmedetomidine
6 The Use of Hypertonic Saline Dextran in Cardiac Surgery Utilizing Cardio Pulmonary Bypass in Children Less Than 17 Weeks Old. Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
7 Phase I/II Clinical Trial to Determine the Pharmacokinetics and Safety Profile of Citrulline in Children Undergoing Cardiopulmonary Bypass Completed NCT00201214 Phase 1, Phase 2 Citrulline
8 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Recruiting NCT03079401 Phase 1, Phase 2
9 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) Not yet recruiting NCT04017975 Phase 2 Fluorescite
10 A Phase I C Clinical Study With Influenza Antiviral DAS181-F03: Double-Blind, Randomized, Placebo-Controlled, Single Dose and Multiple Dose Escalation Study in Healthy Adults Completed NCT01173224 Phase 1 Placebo;DAS181
11 Phase 1 Study of the Safety and Pharmacokinetics of Perioperative IV L-carnitine Administration in Patients With Congenital Heart Disease With Increased Pulmonary Blood Flow Active, not recruiting NCT01825369 Phase 1 IV L-carnitine
12 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
13 Does Preoperative Acetaminophen Reduce Biochemical Markers of Oxidative Stress From Cardiopulmonary Bypass? Completed NCT01228305
14 Family Study of Congenital Cardiovascular Malformations Completed NCT00005258
15 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
16 Biventricular Pacing in Children With Wide QRS After Surgery for Congenital Heart Disease Completed NCT02644824
17 Congenital Heart Disease (CHD): Hemodynamic Effects of Acute Maternal Hyperoxygenation in the Fetus Recruiting NCT03944837
18 Optimal Timing for Repair of Left-to-Right Shunt Lesions Terminated NCT00229827
19 The Impact of Weight Gain in the Pre-operative Infant With Trisomy 21 (Down Syndrome) and Complete Atrioventricular Canal (CAVC) Terminated NCT00327951
20 Retrospective Review of Children and Adolescents Receiving Mechanical and Prosthetic Valves in the Aortic and Mitral Position 1976-2002 Terminated NCT00268008

Search NIH Clinical Center for Atrioventricular Septal Defect

Cochrane evidence based reviews: endocardial cushion defects

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Genetic Tests for Atrioventricular Septal Defect

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Genetic tests related to Atrioventricular Septal Defect:

# Genetic test Affiliating Genes
1 Atrioventricular Septal Defect 29
Sources

Anatomical Context for Atrioventricular Septal Defect

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MalaCards organs/tissues related to Atrioventricular Septal Defect:

41
Heart, Lung, Testes, Liver, Eye, Brain, Kidney
Sources

Publications for Atrioventricular Septal Defect

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Articles related to Atrioventricular Septal Defect:

(show top 50) (show all 1290)
# Title Authors PMID Year
1
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect. 38 8
25996639 2016
2
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. 38 8
23040494 2012
3
Atrioventricular septal defect: from fetus to adult. 38 8
17105897 2006
4
A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21. 38 8
8250042 1993
5
Dominant-negative ALK2 allele associates with congenital heart defects. 8
19506109 2009
6
Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. 8
9002679 1997
7
Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8p. 8
7677156 1995
8
Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21. 8
8112730 1994
9
Risk of congenital heart defects in relatives of patients with atrioventricular canal. 8
8249947 1993
10
Atrioventricular canal and 8p- syndrome. 8
8135296 1993
11
Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence. 8
1534968 1992
12
Evidence of congenital heart disease in the offspring of parents with atrioventricular defects. 8
6824534 1983
13
The recurrence risk in congenital heart disease. 8
668753 1978
14
Etiologic factors in congenital heart diseases. 8
5138391 1971
15
TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts. 9 38
15221798 2004
16
Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations. 9 38
15161646 2004
17
Contemporary epidemiology of infective endocarditis in patients with congenital heart disease: A UK prospective study. 38
31299559 2019
18
Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico. 38
31321895 2019
19
Double orifice and atrioventricular septal defect: dealing with the zone of apposition†. 38
30897200 2019
20
Pulmonary artery banding in a kitten with a partial atrioventricular septal defect. 38
31405551 2019
21
Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country. 38
31222391 2019
22
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation. 38
31408229 2019
23
Current status of cardiovascular surgery in Japan, 2015 and 2016: a report based on the Japan Cardiovascular Surgery Database. 1-congenital heart surgery. 38
31327137 2019
24
Direct Arterial Cannulation Allows Easy and Safe Continuous Selective Cerebral Perfusion During Repair of Interrupted Aortic Arch Even for Low Birth Weight Neonates. 38
31307306 2019
25
Prediction of biventricular repair by echocardiography in borderline ventricle. 38
31348032 2019
26
The Effect of Levosimendan Versus Milrinone on the Occurrence Rate of Acute Kidney Injury Following Congenital Heart Surgery in Infants: A Randomized Clinical Trial. 38
31274775 2019
27
Modified-Single Patch vs Double Patch Repair of Complete Atrioventricular Septal Defects. 38
31306766 2019
28
Denoising and artefact removal for transthoracic echocardiographic imaging in congenital heart disease: utility of diagnosis specific deep learning algorithms. 38
31325067 2019
29
Ellis-van Creveld syndrome in a patient from Tanzania. 38
31350806 2019
30
Rare Association Between Atrioventricular Septal Defect and Partial Anomalous Pulmonary Venous Connection. 38
31364828 2019
31
Optimizing Venous Drainage for Minimal Access Right Atrial Procedures. 38
31185204 2019
32
Cor triatriatum with Raghib complex in partial atrioventricular septal defect and common atrium: a rare combination. 38
31250204 2019
33
Complete Atrioventricular Septal Defect: Evolution of Results in a Single Center During 50 Years. 38
30771324 2019
34
Concurrent right atrial isomerism, complete atrioventricular septal defect, and single ventricle in an L-transposition of great arteries patient complicated by brain abscess. 38
31237225 2019
35
The Effect of Multidisciplinary Approach on the Birth Rate of Fetuses with Prenatally Diagnosed Congenital Heart Disease. 38
31222983 2019
36
Why are congenital heart defects being missed? 38
31131945 2019
37
Atrioventricular septal defect and tetralogy of Fallot - A single tertiary center experience: A retrospective review. 38
31143034 2019
38
Validity of Pulmonary Valve Z-Scores in Predicting Valve-Sparing Tetralogy Repairs-Systematic Review †. 38
31060236 2019
39
Long-term outcomes following partial atrioventricular septal defect (AVSD) repair in Ireland. 38
29943216 2019
40
The matter of "unbalance" in right dominant atrioventricular septal defect. 38
31143038 2019
41
Altered ascending aortic wall shear stress in patients with corrected atrioventricular septal defect: a comprehensive cardiovascular magnetic resonance and 4D flow MRI evaluation. 38
31138335 2019
42
Added value of three-dimensional transthoracic echocardiography in assessment of an adult patient with atrioventricular septal defect. 38
30801807 2019
43
Novel Left Atrioventricular Valvuloplasty for Atrioventricular Septal Defect. 38
30617024 2019
44
Heart-Lung Transplant via an Eighth-Time Sternotomy. 38
31018757 2019
45
Recurrent Congenital Heart Diseases Among Neonates Born to Mothers with Congenital Heart Diseases. 38
30830281 2019
46
Is the modified single-patch repair superior to the double-patch repair of complete atrioventricular septal defects? 38
30239715 2019
47
Polysplenia Syndrome as a Risk Factor for Early Progression of Pulmonary Hypertension. 38
30842375 2019
48
Pulmonary arterial compliance is a useful predictor of pulmonary vascular disease in congenital heart disease. 38
30225809 2019
49
Case 2 / 2019 - Complete Atrioventricular Septal Defect, with Down Syndrome, without Pulmonary Hypertension and Natural History at 33 Years of Age. 38
30916196 2019
50
Electro-vectorcardiographic demonstration of bifascicular block associated with ventricular preexcitation. 38
29673006 2019
Sources

Variations for Atrioventricular Septal Defect

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ClinVar genetic disease variations for Atrioventricular Septal Defect:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SMARCAL1 NM_014140.3(SMARCAL1): c.723C> A (p.Cys241Ter) single nucleotide variant Pathogenic rs748106387 2:217280150-217280150 2:216415427-216415427
2 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 2:217342939-217342939 2:216478216-216478216
3 TBX5 NM_000192.3(TBX5): c.404T> G (p.Leu135Arg) single nucleotide variant Likely pathogenic rs1057519050 12:114836484-114836484 12:114398679-114398679
4 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign rs147674680 3:71019907-71019907 3:70970756-70970756
Sources

Expression for Atrioventricular Septal Defect

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Search GEO for disease gene expression data for Atrioventricular Septal Defect.
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Pathways for Atrioventricular Septal Defect

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Pathways related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.38 TBX5 NKX2-5 GJA1 GATA4
2
Transcriptional Regulatory Network in Embryonic Stem Cell 64
11.12 NFATC1 GATA6 GATA4
3
Cardiac Progenitor Differentiation 1
11.06 TBX5 NKX2-5 GATA4
4
Physiological and Pathological Hypertrophy of the Heart 1
10.8 GATA4 EDN1
5
Cardiomyocyte Differentiation through BMP Receptors 64
10.71 NKX2-5 GATA4
6
Heart Development 1
10.68 TBX5 NKX2-5 NFATC1 GATA6 GATA4
7
HOP Signaling 64
10.03 NKX2-5 GATA4
Sources

GO Terms for Atrioventricular Septal Defect

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Cellular components related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 connexin complex GO:0005922 8.96 GJC1 GJA1
2 plasma membrane protein complex GO:0098797 8.62 EVC2 EVC

Biological processes related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.96 TBX5 NKX2-5 NFATC1 GATA6 GATA4
2 cell-cell signaling GO:0007267 9.83 TBX5 GJC1 GJA1 GATA4 EDN1
3 heart looping GO:0001947 9.65 NKX2-5 GJA1 GATA4
4 negative regulation of cardiac muscle cell proliferation GO:0060044 9.58 TBX5 GJA1
5 cardiac muscle tissue development GO:0048738 9.58 NKX2-5 GJC1 GATA6
6 embryonic heart tube development GO:0035050 9.57 NKX2-5 GJA1
7 adult heart development GO:0007512 9.55 NKX2-5 GJA1
8 cardiac ventricle morphogenesis GO:0003208 9.54 NKX2-5 GATA4
9 endocardial cushion development GO:0003197 9.54 TBX5 GATA4 CRELD1
10 atrial cardiac muscle cell action potential GO:0086014 9.52 GJC1 GJA1
11 intestinal epithelial cell differentiation GO:0060575 9.51 GATA6 GATA4
12 atrial septum morphogenesis GO:0060413 9.5 TBX5 NKX2-5 GATA4
13 gap junction assembly GO:0016264 9.49 GJC1 GJA1
14 bundle of His development GO:0003166 9.46 TBX5 NKX2-5
15 cardiac muscle cell differentiation GO:0055007 9.46 TBX5 NKX2-5 GATA6 GATA4
16 heart development GO:0007507 9.35 TBX5 NKX2-5 GJC1 GJA1 EDN1
17 cell development GO:0048468 9.26 GJC1 GDF1
18 positive regulation of cardioblast differentiation GO:0051891 8.92 TBX5 NKX2-5 GATA6 GATA4
19 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 TBX5 NKX2-5 NFATC1 GATA6 GATA4 EDN1

Molecular functions related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.72 TBX5 NKX2-5 GATA6 GATA4 FOXP1
2 DNA-binding transcription factor activity GO:0003700 9.63 TBX5 NKX2-5 NFATC1 GATA6 GATA4 FOXP1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.35 TBX5 NKX2-5 NFATC1 GATA6 GATA4
4 gap junction channel activity GO:0005243 9.26 GJC1 GJA1
5 enhancer sequence-specific DNA binding GO:0001158 9.07 GATA4
6 transcription factor binding GO:0008134 9.02 TBX5 NKX2-5 NFATC1 GATA6 GATA4
Sources

Sources for Atrioventricular Septal Defect

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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